Identification of a novel WAS mutation in a South African patient presenting with atypical Wiskott-Aldrich syndrome: a case report

BACKGROUND: The X-linked recessive primary immunodeficiency disease (PIDD) Wiskott-Aldrich syndrome (WAS) is identified by an extreme susceptibility to infections, eczema and thrombocytopenia with microplatelets. The syndrome, the result of mutations in the WAS gene which encodes the Wiskott-Aldrich...

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Bibliografski detalji
Izdano u:BMC Med Genet
Glavni autori: Glanzmann, Brigitte, Möller, Marlo, Schoeman, Mardelle, Urban, Michael, van Helden, Paul D., Frigati, Lisa, Grewal, Ravnit, Pieters, Hermanus, Loos, Ben, Hoal, Eileen G., Glashoff, Richard H., Cornelissen, Helena, Rabie, Helena, Esser, Monika M., Kinnear, Craig J.
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2020
Teme:
Case Report
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7275612/
https://ncbi.nlm.nih.gov/pubmed/32503528
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-01054-6
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